Ann Pediatr Endocrinol Metab.  2012 Sep;17(3):145-152. 10.6065/apem.2012.17.3.145.

Issues in Infants with Prader-Will Syndrome: Special Review on Early Dietary Intervention and Early Use of Growth Hormone

• Cho SY
• Jin DK

• KMID: 1434708
• DOI: http://doi.org/10.6065/apem.2012.17.3.145

Abstract

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features consist of neonatal hypotonia, distinctive facial features, delayed overall development with mental deficiency, behavioral abnormalities, poor growth in infancy followed by overeating with severe obesity, short stature, and hypogonadism. Recently, patients with PWS have been diagnosed at an earlier age, especially in the neonatal period. In addition, early interventions such as commencement of growth hormone therapy and dietary programs, have received attention in PWS treatment. Since early diagnosis is now possible based on both clinical symptoms and signs and on molecular genetic criteria, early dietary intervention and early growth hormone therapy during the first two years may improve neurodevelopment, increase muscle mass, and reduce obesity. Our aim in this review is to document the characteristics of infants with PWS and to provide a recent update regarding early management.

Keyword

Prader-Willi syndrome; Growth hormone; Obesity; Hyperphagia; Infant

MeSH Terms

Early Diagnosis
Early Intervention (Education)
Growth Hormone
Humans
Hyperphagia
Hypogonadism
Infant
Intellectual Disability
Molecular Biology
Muscle Hypotonia
Muscles
Obesity
Prader-Willi Syndrome
Growth Hormone